JASReference:Miyake Y:Tajima S:Funahashi T:Yamamoto A:,J Biol Chem,1989,364,16584

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Title Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia
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Journal The Journal of Biological Chemistry     
(2 pages)
Year 1989
Volume 364
Page 16584

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Del/Ex7-14/12k - exon7-14 This page


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This database is maintained by the subcommittee for Lipid Metabolism in Japan Atherosclerosis Society. If you volunteer to contribute, please contact arita AT k.u-tokyo.ac.jp.

このデータベースは日本動脈硬化学会 脂質代謝部会が作成しています。入力等に協力していただける方は有田 arita AT k.u-tokyo.ac.jp までご連絡下さい。

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